Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224498C>A , CM000679.2:g.7224498C>A	GRCh38
NC_000017.10:g.7127817C>A , CM000679.1:g.7127817C>A	GRCh37
NC_000017.9:g.7068541C>A	NCBI36
NG_007975.1:g.9665C>A
NG_008391.2:g.553G>T
NG_033038.1:g.15047G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1624C>A MANE Select	ENSP00000349297.5:p.Gln542Lys
ENST00000322910.9:c.*1579C>A	ENSP00000325395.5:n.*1579C>A
ENST00000350303.9:c.1558C>A	ENSP00000344152.5:p.Gln520Lys
ENST00000356839.9:c.1624C>A	ENSP00000349297.5:p.Gln542Lys
ENST00000542255.6:c.482C>A
ENST00000543245.6:c.1693C>A	ENSP00000438689.2:p.Gln565Lys
ENST00000578319.5:n.205C>A
ENST00000578711.1:n.994C>A
ENST00000578809.5:n.196C>A
ENST00000579391.1:n.228C>A
ENST00000579425.5:n.740C>A
ENST00000579546.1:c.359C>A
ENST00000579894.5:n.411C>A
ENST00000582450.1:n.132C>A
ENST00000583074.5:n.245C>A
ENST00000583848.5:c.10C>A	ENSP00000466487.1:p.Gln4Lys
ENST00000583850.5:n.395C>A
ENST00000583858.5:c.555C>A
ENST00000585203.6:n.815C>A
NM_000018.3:c.1624C>A	NP_000009.1:p.Gln542Lys
NM_001033859.2:c.1558C>A	NP_001029031.1:p.Gln520Lys
NM_001270447.1:c.1693C>A	NP_001257376.1:p.Gln565Lys
NM_001270448.1:c.1396C>A	NP_001257377.1:p.Gln466Lys
XM_006721516.2:c.1624C>A	XP_006721579.2:p.Gln542Lys
XM_011523829.1:c.1522C>A	XP_011522131.1:p.Gln508Lys
XM_011523830.1:c.1522C>A	XP_011522132.1:p.Gln508Lys
XR_934021.1:n.1727C>A
XR_934022.1:n.1633C>A
XR_934023.1:n.1633C>A
XM_006721516.3:c.1624C>A	XP_006721579.2:p.Gln542Lys
XM_011523829.2:c.1522C>A	XP_011522131.1:p.Gln508Lys
XM_011523830.2:c.1522C>A	XP_011522132.1:p.Gln508Lys
XM_024450741.1:c.1612C>A	XP_024306509.1:p.Gln538Lys
XR_934021.2:n.1679C>A
XR_934022.2:n.1585C>A
XR_934023.2:n.1585C>A
NM_000018.4:c.1624C>A MANE Select	NP_000009.1:p.Gln542Lys
NM_001033859.3:c.1558C>A	NP_001029031.1:p.Gln520Lys
NM_001270447.2:c.1693C>A	NP_001257376.1:p.Gln565Lys
NM_001270448.2:c.1396C>A	NP_001257377.1:p.Gln466Lys

Linked Data

Genomic Alleles

Transcript Alleles